Analysis of clinical phenotype and genetic variants in a Chinese pedigree affected with Angelman syndrome.
10.3760/cma.j.cn511374-20200819-00609
- Author:
Wei JIANG
1
;
Li CAO
;
Jing YU
;
Xiaoxue NA
;
Jiyun YANG
Author Information
1. Key Laboratory for Human Disease Gene Study of Sichuan Province, Prenatal Diagnosis Center, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.yangjiyun@yeah.net.
- Publication Type:Journal Article
- MeSH:
Angelman Syndrome/genetics*;
China;
DNA Copy Number Variations;
Humans;
Mutation;
Pedigree;
Phenotype
- From:
Chinese Journal of Medical Genetics
2021;38(8):723-726
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology for a Chinese pedigree affected with Angelman syndrome (AS).
METHODS:The proband with phenotypes suggestive of AS was subjected to copy number variation sequencing (CNV-seq), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and high-throughput next generation sequencing (NGS). Variant of the UBE3A gene was verified among family members by Sanger sequencing and bioinformatic analysis.
RESULTS:NGS revealed that the proband has carried a heterozygous variant of the UBE3A gene, namely c.1517G>A (p.R506H). The variant has co-segregated with the disease in the pedigree. Multiple amino acid sequence alignment showed that the site of mutant residue is conserved among nine homologous species. The variant was predicted to be deleterious by bioinformatic analysis.
CONCLUSION:A novel variant of the UBE3A gene has been identified in a Chinese pedigree affected with AS. Above finding has further expanded the spectrum of UBE3A gene variants and phenotypes of AS, which also facilitated molecular diagnosis and genetic counseling for the family.
